NC_000012.12:g.[57764205=;57768302=] NC_000020.11:g.[54164712=;54125940=]

HGVS Expressions

  • NC_000012.12:g.[57764205=;57768302=] NC_000020.11:g.[54164712=;54125940=]
  • NC_000012.12:g.[57764205=;57768302=] NC_000020.11:g.[54164712=;54125940T=]
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CTGA Clinical Significance

Protective

Variant Type

Haplotype

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
264700.G.1.3United Arab Emirates500.37ProtectiveVitamin D Hydroxylation-Deficient Rickets, Type 1AAl Anouti et al. 2017 Cohort involving 162 total healthy Emira...
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